NURS 6501-Advanced Pathophysiology Quiz 1 Questions
With Complete Solutions
Cause of genetic disease? Correct Answers a change in the
sequence or cellular content of DNA that ultimately deranges
gene expression, deletion of a group of genes or an abnormal
number of chromosomes
Compare monosomies and trisomes Correct Answers
monosomies cause more severe physical defects than do
trisomies, illustrating the principle that the loss of chromosome
material has more severe consequences than the duplication of
chromosome material.
How are cells specialized? Correct Answers through the
process of differentiation or maturation
How can deprivation of essential nutrients (proteins,
carbohydrates, lipids, and vitamins) lead to cell injury? Correct
Answers by altering cellular structure and function, particularly
of transport mechanisms, chromosomes, the nucleus, and DNA
How common are chromosome abnormalities? Correct Answers
1 in 150 live births, leading cause of mental retardation and
miscarriage
How do cells communicate? Correct Answers (1) they form
protein channels (gap junctions); (2) they display receptors that
affect intracellular processes or other cells in direct physical
contact; and (3) they use receptor proteins inside the target cell.
,How does DNA replicate? Correct Answers DNA molecule
unwinds and each strand is a template for complementary base
pairing; each daughter helix contains an intact strand from the
parent helix and a newly synthesized strand therefore DNA
replication is semiconservative
How does Fragile X present? Correct Answers small joint
hyperextensibility, mild hypotonia, and a family history of
intellectual disability in maternally related males
How is endocytosis done? Correct Answers when the substance
to be transported is engulfed by a segment of the plasma
membrane, forming a vesicle that moves into the cell.
How is intercellular signaling done? Correct Answers contact-
dependent, paracrine, hormonal, neurohormonal, and
neurotransmitter.
Importance of proteins in disease Correct Answers The major
workhorses of the cell, if misfolded they can cause diseases
Most genetic disorders affect all cells why? Correct Answers it
is inherited from a mutant egg or sperm
Prediction of disease Correct Answers A marker locus, when
closely linked to a disease-gene locus, can be used to predict
whether an individual will develop a genetic disease.
Recurrence risk for autosomal dominant diseases Correct
Answers 50%
, Recurrence risk for autosomal recessive diseases Correct
Answers 25%
What are alleles? Correct Answers different versions of the
same gene
What are diploid somatic cells? Correct Answers Body Cells
What are free radicals? Correct Answers unstable oxygen-
containing molecules that can damage the cells of the body and
possibly contribute to the increased risk of chronic diseases
What are haploid gametes? Correct Answers sperm and egg
cells
What are lysosomes and what do they do? Correct Answers
saclike structures that originate from the Golgi complex and
contain digestive enzymes. These enzymes are responsible for
digesting most cellular substances to their basic form, such as
amino acids, fatty acids, and carbohydrates
What are mitochondria responsible for? Correct Answers .
Mitochondria contain the metabolic machinery necessary for
cellular energy metabolism (Makes ATP).
What are molecular biologic phenotypes? Correct Answers can
be detected only with a laboratory test
What are multifactorial traits? Correct Answers traits that
depend on multiple genes combined with environmental
influences
With Complete Solutions
Cause of genetic disease? Correct Answers a change in the
sequence or cellular content of DNA that ultimately deranges
gene expression, deletion of a group of genes or an abnormal
number of chromosomes
Compare monosomies and trisomes Correct Answers
monosomies cause more severe physical defects than do
trisomies, illustrating the principle that the loss of chromosome
material has more severe consequences than the duplication of
chromosome material.
How are cells specialized? Correct Answers through the
process of differentiation or maturation
How can deprivation of essential nutrients (proteins,
carbohydrates, lipids, and vitamins) lead to cell injury? Correct
Answers by altering cellular structure and function, particularly
of transport mechanisms, chromosomes, the nucleus, and DNA
How common are chromosome abnormalities? Correct Answers
1 in 150 live births, leading cause of mental retardation and
miscarriage
How do cells communicate? Correct Answers (1) they form
protein channels (gap junctions); (2) they display receptors that
affect intracellular processes or other cells in direct physical
contact; and (3) they use receptor proteins inside the target cell.
,How does DNA replicate? Correct Answers DNA molecule
unwinds and each strand is a template for complementary base
pairing; each daughter helix contains an intact strand from the
parent helix and a newly synthesized strand therefore DNA
replication is semiconservative
How does Fragile X present? Correct Answers small joint
hyperextensibility, mild hypotonia, and a family history of
intellectual disability in maternally related males
How is endocytosis done? Correct Answers when the substance
to be transported is engulfed by a segment of the plasma
membrane, forming a vesicle that moves into the cell.
How is intercellular signaling done? Correct Answers contact-
dependent, paracrine, hormonal, neurohormonal, and
neurotransmitter.
Importance of proteins in disease Correct Answers The major
workhorses of the cell, if misfolded they can cause diseases
Most genetic disorders affect all cells why? Correct Answers it
is inherited from a mutant egg or sperm
Prediction of disease Correct Answers A marker locus, when
closely linked to a disease-gene locus, can be used to predict
whether an individual will develop a genetic disease.
Recurrence risk for autosomal dominant diseases Correct
Answers 50%
, Recurrence risk for autosomal recessive diseases Correct
Answers 25%
What are alleles? Correct Answers different versions of the
same gene
What are diploid somatic cells? Correct Answers Body Cells
What are free radicals? Correct Answers unstable oxygen-
containing molecules that can damage the cells of the body and
possibly contribute to the increased risk of chronic diseases
What are haploid gametes? Correct Answers sperm and egg
cells
What are lysosomes and what do they do? Correct Answers
saclike structures that originate from the Golgi complex and
contain digestive enzymes. These enzymes are responsible for
digesting most cellular substances to their basic form, such as
amino acids, fatty acids, and carbohydrates
What are mitochondria responsible for? Correct Answers .
Mitochondria contain the metabolic machinery necessary for
cellular energy metabolism (Makes ATP).
What are molecular biologic phenotypes? Correct Answers can
be detected only with a laboratory test
What are multifactorial traits? Correct Answers traits that
depend on multiple genes combined with environmental
influences
